Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23212135C>A , CM000670.2:g.23212135C>A | GRCh38 |
| NC_000008.10:g.23069648C>A , CM000670.1:g.23069648C>A | GRCh37 |
| NC_000008.9:g.23125593C>A | NCBI36 |
| NG_032107.1:g.18033G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.384G>T MANE Select | ENSP00000221132.3:p.Leu128Phe | |
| ENST00000221132.7:c.384G>T | ENSP00000221132.3:p.Leu128Phe | |
| ENST00000524158.5:c.-223G>T | ENSP00000428884.1:n.-223G>T | |
| ENST00000613472.1:c.32-9476G>T | ENSP00000480778.1:n.32-9476G>T | |
| NM_003844.3:c.384G>T | NP_003835.3:p.Leu128Phe | |
| NM_003844.4:c.384G>T MANE Select | NP_003835.3:p.Leu128Phe |